Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213-2546, USA.
Hum Pathol. 2011 Sep;42(9):1247-58. doi: 10.1016/j.humpath.2010.11.016. Epub 2011 Feb 21.
Many pathology laboratories have developed specific screening protocols to detect patients with Lynch syndrome. With recent recommendations to test all patients with newly diagnosed colorectal cancer for Lynch syndrome, the volume of testing will increase, and the most economic and reliable screening test will prevail. Although the detection of microsatellite instability by polymerase chain reaction and the detection of loss of the mismatch repair proteins by immunohistochemistry can each be used as a screening tool, each methodology has its strengths and weaknesses. During the time of our study, we used both polymerase chain reaction and immunohistochemistry to screen for Lynch syndrome in colorectal cancer specimens. We encountered 21 cases that posed significant interpretive challenges. A previously unpublished pattern of nucleolar MSH6 staining and potential spurious results induced by chemoradiation therapy are described. We feel that it is important to report these cases so that potential pitfalls in screening for Lynch syndrome can be avoided.
许多病理实验室已经制定了特定的筛选方案来检测林奇综合征患者。随着最近建议对所有新诊断的结直肠癌患者进行林奇综合征检测，检测量将会增加，而最经济和可靠的筛选检测方法将占主导地位。虽然聚合酶链反应检测微卫星不稳定性和免疫组织化学检测错配修复蛋白的丢失都可以作为筛选工具，但每种方法都有其优点和缺点。在我们的研究期间，我们使用聚合酶链反应和免疫组织化学来筛选结直肠癌标本中的林奇综合征。我们遇到了 21 例具有显著解释性挑战的病例。描述了一种以前未发表的核仁 MSH6 染色模式和放化疗引起的潜在假阳性结果。我们认为报告这些病例很重要，这样可以避免林奇综合征筛查中的潜在陷阱。
